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2.
Eur J Hum Genet ; 26(12): 1732-1742, 2018 12.
Artigo em Inglês | MEDLINE | ID: mdl-30089825

RESUMO

In oncology, the expanding use of multi-gene panels to explore familial cancer predisposition and tumor genome analysis has led to increased secondary findings discoveries (SFs) and has given rise to important medical, ethical, and legal issues. The American College of Medical Genetics and Genomics published a policy statement for managing SFs for a list of genes, including 25 cancer-related genes. Currently, there are few recommendations in Europe. From June 2016 to May 2017, the French Society of Predictive and Personalized Medicine (SFMPP) established a working group of 47 experts to elaborate guidelines for managing information given on the SFs for genes related to cancers. A subgroup of ethicists, lawyers, patients' representatives, and psychologists provided ethical reflection, information guidelines, and materials (written consent form and video). A subgroup with medical expertise, including oncologists and clinical and molecular geneticists, provided independent evaluation and classification of 60 genes. The main criteria were the "actionability" of the genes (available screening or prevention strategies), the risk evaluation (severity, penetrance, and age of disease onset), and the level of evidence from published data. Genes were divided into three classes: for class 1 genes (n = 36), delivering the information on SFs was recommended; for class 2 genes (n = 5), delivering the information remained questionable because of insufficient data from the literature and/or level of evidence; and for class 3 genes (n = 19), delivering the information on SFs was not recommended. These guidelines for managing SFs for cancer-predisposing genes provide new insights for clinicians and laboratories to standardize clinical practices.


Assuntos
Revelação/normas , Testes Genéticos/normas , Neoplasias/genética , Guias de Prática Clínica como Assunto , Análise de Sequência de DNA/normas , Revelação/ética , Revelação/legislação & jurisprudência , França , Humanos , Neoplasias/diagnóstico , Medicina de Precisão/normas , Sociedades Médicas
3.
Bull Cancer ; 101(10): 918-24, 2014 Oct.
Artigo em Francês | MEDLINE | ID: mdl-25373691

RESUMO

Adjuvant chemotherapy for localised breast cancer aims at reducing the risk of relapse and at increasing overall survival. Decision criteria include tumour burden and biological profile. It appears currently difficult to evaluate the benefit/risk ratio in certain borderline cases, which are more and more frequent. We have evaluated through an anonymous web survey conducted as part of the 2013 Annual Saint-Paul-de-Vence breast conference, the chemotherapy decisions, use of guidelines and level of certainty with decisions in this type of situation through four clinical cases. The survey was proposed to 1,190 French physicians who are directly in charge of breast cancer care, whatever their specialty. Three hundred and fifty-three of them replied, of whom 67 % were oncologists and 15 % surgeons. A significantly heterogeneous decision was observed for two out of four cases, in which 52 and 69 % of the physicians opted for adjuvant chemotherapy, versus 48 and 21 % for abstention respectively. Eighty seven percent of responding physicians used guidelines to guide their decision. These guidelines were regional for 63 %, national for 36 %, local in 21 % and international in 16 % of the cases. The level of certainty varied with clinical cases but not with the physician's specialty, nor type of decision.


Assuntos
Antineoplásicos/uso terapêutico , Neoplasias da Mama/química , Neoplasias da Mama/tratamento farmacológico , Quimioterapia Adjuvante/normas , Tomada de Decisões , Fidelidade a Diretrizes/estatística & dados numéricos , Biomarcadores Tumorais/análise , Neoplasias da Mama/patologia , Feminino , França , Cirurgia Geral/estatística & dados numéricos , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Humanos , Oncologia/estatística & dados numéricos , Pessoa de Meia-Idade , Recidiva Local de Neoplasia , Guias de Prática Clínica como Assunto , Radioterapia (Especialidade)/estatística & dados numéricos
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